A reagent kit for detection and quantification of the allelic burden for the mutant form of JAK2 gene in the clinical biomaterial from the patients with Ph-negative chronic myeloproliferative diseases (CMPD) by means of polymerase chain reaction (PCR) with real-time hybridization-fluorescence detection
The kit of reagents is used to confirm the CMPD diagnosis and to monitor the efficiency of therapy by assessing MRD levels.
The kit of reagents is designed to perform assays in a quantitative format for 24 clinical samples in duplicate (a total of 132 PCR reactions, including controls).
Additional information about the molecular marker
Chronic myeloproliferative diseases (CMPD) are a group of diseases characterized by excessive production of myeloid cells in the bone marrow. Over recent years, significant progress has been made in understanding the molecular pathogenesis of CMPD. Along with Philadelphia chromosome (Ph chromosome) being the main diagnostic criteria for chronic myeloid leukemia since 1960, some specific genetic abnormalities were found to be characteristic of Ph-negative CMPDs, i.e., polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The most important mutations include those in the JAK2 gene (exon 14, V617F; exon 12), as well as mutations in calreticulin (CALR) and thrombopoietin receptor (MPL) genes.
Most patients with classic Ph-negative CMPD carry the JAK2V617F mutation leading to constitutive activation of the JAK2 tyrosine kinase. The mutation in exon 14 of JAK2 gene results into guanine-to-thymine substitution at position 1849 thus causing replacement of amino acid valine by phenylalanine at codon 617 of the JAK2 tyrosine kinase. This V617F mutation is also detectable in blood and red bone marrow cells in some patients with other clonal hematological disorders such as myelodysplastic syndrome, atypical CMPD, and acute myeloid leukemia. The occurrence rates of JAK2V617F mutation in Ph-negative MPDs are estimated as 95% in polycythemia vera; 50%, in essential thrombocythemia and primary myelofibrosis; 20%, in non-classical CMPD, and 1 to 10% in de novo acute myeloid leukemia or myelodysplastic syndrome (Tefferi, 2008). This mutation is not observed in non-myeloid neoplasms or reactive myeloproliferation.
According to WHO diagnostic criteria (2016), the JAK2 V617F mutation is included into the list of standard molecular markers for CMPD diagnosis. These findings have resulted into revision of the WHO diagnostic criteria for "classic" CMHD in 2008, and boosted a search for new methods of targeted therapy in these diseases.
Ordering information:
- JAK2 MutaPrime RQ Kit (V617F), 24 tests Cat.No IG-RQ-21-24
- JAK2 MutaPrime RQ Kit (V617F), 48 tests Cat.No IG-RQ-21-48
Additiional reagents:
Blood Column DNA Kit, 100 extr. Cat.No IG-CDK-100
Price: on request
Reagents are for research use only (RUO)